Simons Center for Data Analysis scientist Olga Troyanskaya has developed a machine-learning tool that uses neural interaction networks to predict autism risk genes.
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Plans are underway to perform whole-genome sequencing of the entire Simons Simplex Collection (SSC). Genomes from 553 families (2,174 genomes) have been sequenced and are available to approved researchers with no publication embargo restrictions. An additional 619 families (2,476 genomes) are currently being sequenced and are expected to be available in the fall of 2016. A four-month publication embargo will apply to that batch of samples. Sequencing of the entire collection is expected to be completed by late 2017.
Evan Eichler reconstructs the evolution of chromosome 16p11.2 and finds most disease-causing rearrangements map within a H. sapiens-specific duplication containing BOLA2.
Beth Stevens shows that, in MeCP2 null mice, microglia excessively eliminate presynaptic inputs, targeting synapses previously weakened by MeCP2 loss in other CNS cell types.
Autism BrainNet has begun distributing postmortem brain tissue to qualified investigators working on autism and related neurodevelopmental disorders. Initially, distributed tissue will be restricted to donations previously collected by the Autism Tissue Program. Distribution of new donations (collected under the auspices of Autism BrainNet) is expected to begin in the fall of 2016.
Joseph Gleeson and colleagues have generated a publically accessible whole-exome variome from 1,111 unrelated individuals within the Greater Middle East Variome Consortium.
New data were added to SFARI Gene in June. This data release included the addition of new human genes implicated in autism, new animal models, and new protein-protein and protein-nucleic-acid interactions of relevance for autism.
Alan Packer, senior scientist at SFARI, discusses a number of recent review articles that provide interesting and complementary overviews of what we currently know about the neurobiology of autism. Together, these reviews reveal how much basic research on autism has grown over the past decade.
Pamela Feliciano discusses the motivation behind SPARK and insights gained from the initial phases of the project.
David Ginty shows that four different mice harboring mutations in ASD risk genes have altered peripheral sensory neuron processing that contributes to ASD-like phenotypes.
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